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Clinical Dysmorphology|September 8, 2006
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 geneGabrielle S Sellick, Kristein P Hoornaert, Geert R Mortier, et al.Clinical Dysmorphology|September 8, 2006
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case reportAnna Hackett, Lindsay RoweClinical Dysmorphology|September 8, 2006
Handless, footless fetusShubha R Phadke, K M Girisha, Ashwin DalalClinical Dysmorphology|September 8, 2006
Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expressionMaria Francesca Bedeschi, Fabienne Escande, Melissa Bellini, et al.Clinical Dysmorphology|September 8, 2006
Malpuech syndrome: facial features in the absence of cleftingSusan M Finn, Sally A LynchClinical Dysmorphology|November 14, 1997
Craniofacial anomalies, severe cerebellar hypoplasia, psychomotor and growth delay in a child with congenital hypothyroidismL Mauceri, M Ruggieri, V Pavone, et al.Clinical Dysmorphology|April 18, 1998
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)J Amiel, P M Watkin, M Tassabehji, et al.Clinical Dysmorphology|January 1, 1992
Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies)I K TempleClinical Dysmorphology|January 1, 1992
Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibsC Pridmore, M Baraitser, J LeonardClinical Dysmorphology|January 1, 1992
Microgastria-hypoplastic upper limb association: a severe expression including microphthalmia, single nostril and arhinencephalyP Meinecke, C G Bönnemann, R LaasPageof 117